Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2006-1-26
pubmed:abstractText
Large expansions in the SCA2 and SCA7 genes (>100 CAG repeats) have been associated with juvenile and infantile forms of cerebellar ataxias that cannot be detected using standard polymerase chain reaction (PCR). Here, we describe a successful application of the fluorescent short tandem repeat-primed PCR method for accurate identification of these expanded repeats. The test is robust, reliable, and inexpensive and can be used to screen large series of patients, although it cannot give a precise evaluation of the size of the expansion. This test may be of practical value in prenatal diagnoses offered to affected or pre-symptomatic at-risk parents, in which a very large expansion inherited from one of the parents can be missed in the fetus by standard PCR.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-10500272, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-11697534, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-11835387, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-12116207, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-12491919, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-12601109, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-14735588, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-15096564, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-15349877, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-8896556, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-9004136, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-9048937, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-9158145, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-9288099, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-9425222, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-9425223, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-9736784, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-9779806, http://linkedlifedata.com/resource/pubmed/commentcorrection/16436644-9781533
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1525-1578
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
128-32
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.
pubmed:affiliation
Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di Torino, via Santena 19, 10126, Torino, Italy.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't, Evaluation Studies